|
rs796065343
|
|
|
0.050 |
GeneticVariation |
BEFREE |
In the patient diagnosed with aCML in bone marrow study, two CSF3R mutations, (T618I and Y779*) a SETBP1 mutation (G870S) and an U2AF1 mutation (Q157P), were identified by high-coverage next-generation sequencing.
|
31692115 |
2020 |
|
rs796065343
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The overlap of recurrently mutated genes between aCML and CMML support considering CSF3R-T618I mutated cases as a distinct entity, either as CNL or CNL with dysplasia.
|
28983816 |
2017 |
|
rs796065343
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Although CSF3R point mutations (e.g., T618I) are emerging as key players in CNL/aCML, the significance of rarer CSF3R mutations is unknown.
|
26475333 |
2016 |
|
rs796065343
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Novel therapies that emerge from these genetic findings will need to be investigated in the setting of a clinical trial to determine the safety and efficacy of targeting various oncogenic drivers, such as JAK1/2 inhibition in CSF3R-T618I-positive aCML and CNL.
|
26637732 |
2015 |
|
rs796065343
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Somatic CSF3R T618I (0/54) and CALR (0/30) mutations were not detected either in aCML or MDS/MPN-U.
|
24627528 |
2014 |
|
rs267607040
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In the patient diagnosed with aCML in bone marrow study, two CSF3R mutations, (T618I and Y779*) a SETBP1 mutation (G870S) and an U2AF1 mutation (Q157P), were identified by high-coverage next-generation sequencing.
|
31692115 |
2020 |
|
rs267607040
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We performed exome sequencing of eight aCMLs and identified somatic alterations of SETBP1 (encoding a p.Gly870Ser alteration) in two cases.
|
23222956 |
2013 |
|
rs371246226
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the patient diagnosed with aCML in bone marrow study, two CSF3R mutations, (T618I and Y779*) a SETBP1 mutation (G870S) and an U2AF1 mutation (Q157P), were identified by high-coverage next-generation sequencing.
|
31692115 |
2020 |
|
rs121918426
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Because of its similarities to CSF3R T618I, the T640N mutation likely has diagnostic and therapeutic relevance in CNL/aCML.
|
26475333 |
2016 |
|
rs77375493
|
|
|
0.010 |
GeneticVariation |
BEFREE |
None of the nine amplifiable cases of aCML and none of the normal BM controls showed a JAK2 V617F mutation, in contrast to 45/59 (76%) of the Ph chromosome negative CMPN cases.
|
18555525 |
2008 |